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Aliases for DENND1C Gene

Aliases for DENND1C Gene

  • DENN/MADD Domain Containing 1C 2 3
  • Connecdenn 3 2 3 4
  • Family With Sequence Similarity 31, Member C 2 3
  • FAM31C 3 4
  • DENN Domain-Containing Protein 1C 3
  • Protein FAM31C 4

External Ids for DENND1C Gene

Previous HGNC Symbols for DENND1C Gene

  • FAM31C

Previous GeneCards Identifiers for DENND1C Gene

  • GC19M006419
  • GC19M006230

Summaries for DENND1C Gene

Entrez Gene Summary for DENND1C Gene

  • Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

GeneCards Summary for DENND1C Gene

DENND1C (DENN/MADD Domain Containing 1C) is a Protein Coding gene. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND2C.

UniProtKB/Swiss-Prot for DENND1C Gene

  • Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DENND1C Gene

Genomics for DENND1C Gene

Regulatory Elements for DENND1C Gene

Genomic Location for DENND1C Gene

Start:
6,467,207 bp from pter
End:
6,482,557 bp from pter
Size:
15,351 bases
Orientation:
Minus strand

Genomic View for DENND1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DENND1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND1C Gene

Proteins for DENND1C Gene

  • Protein details for DENND1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV53-DEN1C_HUMAN
    Recommended name:
    DENN domain-containing protein 1C
    Protein Accession:
    Q8IV53
    Secondary Accessions:
    • B4E051
    • D3PFD4
    • Q8NDB1
    • Q9H5Z2

    Protein attributes for DENND1C Gene

    Size:
    801 amino acids
    Molecular mass:
    87065 Da
    Quaternary structure:
    • Exhibits low nucleotide-independent RAB35-binding activity. Interacts with clathrin heavy chain/CLTC and with AP2A2, but not with AP2B1.
    SequenceCaution:
    • Sequence=BAB15475.1; Type=Frameshift; Positions=788; Evidence={ECO:0000305};

    Alternative splice isoforms for DENND1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND1C Gene

Proteomics data for DENND1C Gene at MOPED

Post-translational modifications for DENND1C Gene

  • Ubiquitination at Lys385, Lys460, and Lys469
  • Modification sites at PhosphoSitePlus

Other Protein References for DENND1C Gene

No data available for DME Specific Peptides for DENND1C Gene

Domains for DENND1C Gene

Gene Families for DENND1C Gene

HGNC:
  • DENND :DENN/MADD domain containing

Protein Domains for DENND1C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DENND1C Gene

Graphical View of Domain Structure for InterPro Entry

Q8IV53

UniProtKB/Swiss-Prot:

DEN1C_HUMAN :
  • Q8IV53
Domain:
  • Contains 1 dDENN domain.
  • Contains 1 DENN domain.
  • Contains 1 uDENN domain.
genes like me logo Genes that share domains with DENND1C: view

Function for DENND1C Gene

Molecular function for DENND1C Gene

UniProtKB/Swiss-Prot Function: Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Gene Ontology (GO) - Molecular Function for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
genes like me logo Genes that share ontologies with DENND1C: view

Phenotypes for DENND1C Gene

GenomeRNAi human phenotypes for DENND1C:
genes like me logo Genes that share phenotypes with DENND1C: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DENND1C Gene

Localization for DENND1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND1C Gene

Cytoplasm, cytosol. Cytoplasmic vesicle, clathrin-coated vesicle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DENND1C Gene COMPARTMENTS Subcellular localization image for DENND1C gene
Compartment Confidence
cytosol 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0030136 clathrin-coated vesicle IEA --
GO:0031410 cytoplasmic vesicle --
genes like me logo Genes that share ontologies with DENND1C: view

Pathways for DENND1C Gene

SuperPathways for DENND1C Gene

No Data Available

Interacting Proteins for DENND1C Gene

Gene Ontology (GO) - Biological Process for DENND1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DENND1C: view

No data available for Pathways by source for DENND1C Gene

Transcripts for DENND1C Gene

Unigene Clusters for DENND1C Gene

DENN/MADD domain containing 1C:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DENND1C

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DENND1C
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DENND1C Gene

No ASD Table

Relevant External Links for DENND1C Gene

GeneLoc Exon Structure for
DENND1C
ECgene alternative splicing isoforms for
DENND1C

Expression for DENND1C Gene

mRNA expression in normal human tissues for DENND1C Gene

mRNA differential expression in normal tissues according to GTEx for DENND1C Gene

This gene is overexpressed in Whole Blood (19.3) and Spleen (7.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DENND1C Gene

SOURCE GeneReport for Unigene cluster for DENND1C Gene Hs.236449

genes like me logo Genes that share expressions with DENND1C: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DENND1C Gene

Orthologs for DENND1C Gene

This gene was present in the common ancestor of animals.

Orthologs for DENND1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DENND1C 35
  • 95.53 (n)
  • 93.76 (a)
DENND1C 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DENND1C 35
  • 82.47 (n)
  • 79.27 (a)
DENND1C 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DENND1C 35
  • 84.47 (n)
  • 81.61 (a)
DENND1C 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dennd1c 35
  • 75.69 (n)
  • 74.24 (a)
Dennd1c 16
Dennd1c 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DENND1C 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 10 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Dennd1c 35
  • 73.11 (n)
  • 68.22 (a)
lizard
(Anolis carolinensis)
Reptilia DENND1C 36
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dennd1c 35
  • 59.38 (n)
  • 56.45 (a)
zebrafish
(Danio rerio)
Actinopterygii DENND1C 36
  • 36 (a)
OneToOne
si:dkey-76b14.2 35
  • 55.9 (n)
  • 51.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18659 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rme-4 36
  • 27 (a)
OneToMany
Species with no ortholog for DENND1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DENND1C Gene

ENSEMBL:
Gene Tree for DENND1C (if available)
TreeFam:
Gene Tree for DENND1C (if available)

Paralogs for DENND1C Gene

Selected SIMAP similar genes for DENND1C Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for DENND1C Gene

genes like me logo Genes that share paralogs with DENND1C: view

Variants for DENND1C Gene

Sequence variations from dbSNP and Humsavar for DENND1C Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs348364 -- 6,471,886(+) GATCC(A/G)TCTGC intron-variant
rs348392 -- 6,478,856(+) GGCTG(G/T)GGAGA intron-variant
rs348393 -- 6,480,381(+) CTGTC(C/T)CCTAT intron-variant, reference, synonymous-codon
rs348394 -- 6,480,464(+) TCTCT(A/C)TATAT intron-variant, reference, stop-gained
rs348397 -- 6,476,277(+) AGACC(G/T)CCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DENND1C Gene

Variant ID Type Subtype PubMed ID
dgv3698n71 CNV Loss 21882294
nsv910916 CNV Loss 21882294
nsv833727 CNV Loss 17160897
nsv910923 CNV Loss 21882294
nsv910924 CNV Loss 21882294
esv2161777 CNV Deletion 18987734

Relevant External Links for DENND1C Gene

HapMap Linkage Disequilibrium report
DENND1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND1C Gene

Disorders for DENND1C Gene

No disorders were found for DENND1C Gene.

No data available for UniProtKB/Swiss-Prot for DENND1C Gene

Publications for DENND1C Gene

  1. The connecdenn family, Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery. (PMID: 20154091) Marat A.L. … McPherson P.S. (J. Biol. Chem. 2010) 3 4
  2. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3

Products for DENND1C Gene

Sources for DENND1C Gene

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